Variant detail

mut_id 371 · c.3633C>G · p.Asn1211Lys

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Evidence at a glance

1
Linked patients
1
Patient-variant records
0
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 1211 AlphaMissense key N1211K
HGVS
c.3633C>G
Protein change
p.Asn1211Lys
rsID
rs1842763401
GRCh38 coordinate
133456628
Location
exon 27
gnomAD AF
0.00000434
Domain
CUB 1
Gene
ADAMTS13

External links

dbSNP gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
N → K at 1211
AlphaMissense score
Not available
No local AlphaMissense row found for N1211K.
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.9
Molecular weight
132.1 → 146.2
Original residue details
N · asparagine
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
K · lysine
code: Lys
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

Interactive AlphaFold structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 1211 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=4; range=4–4
Age of onset
n=1; median=23; range=23–23
Age of diagnosis
n=1; median=23; range=23–23
Platelet count
n=1; median=26; range=26–26

Variant fields

mut_syn_HGVS
c.3633C>G
cdna_numb_HGVS
3633
cdna_numb_legacy
3633
nt_change
C>G
n_bp
1
nuc_numb
3633
g_numb
g16
aa_numb_HGVS
1211
aa_numb_legacy
1211
aa_first
Asn
aa_last
Lys
aa_syn
p.Asn1211Lys
codon_first
AAC
codon_last
AAG
coordinate_GRCh38
133456628
gnomAD_AC
7
gnomAD_AN
1612052
gnomAD_AF
0.00000434
g_id
g16
g_name
ADAMTS13
comments
In paper this is mapped to 290.1, changed to 699.7
refState
complete
ref_id
330

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
282 371 273 330 cTTP compound_heterozygous Germany female 23 23 4 26 no none PI